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    EOGT EGF domain specific O-linked N-acetylglucosamine transferase [ Homo sapiens (human) ]

    Gene ID: 285203, updated on 10-Dec-2024

    Summary

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    Official Symbol
    EOGTprovided by HGNC
    Official Full Name
    EGF domain specific O-linked N-acetylglucosamine transferaseprovided by HGNC
    Primary source
    HGNC:HGNC:28526
    See related
    Ensembl:ENSG00000163378 MIM:614789; AllianceGenome:HGNC:28526
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AOS4; AER61; EOGT1; C3orf64
    Summary
    This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
    Expression
    Ubiquitous expression in lung (RPKM 8.1), prostate (RPKM 7.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EOGT in Genome Data Viewer
    Location:
    3p14.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (68975225..69013684, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (69011970..69050451, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (69024376..69062835, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:68693138-68693638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:68693639-68694139 Neighboring gene proteasome 26S subunit, ATPase 1 pseudogene 1 Neighboring gene TAFA chemokine like family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:68859761-68860260 Neighboring gene RNA, 5S ribosomal pseudogene 135 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:68968097-68968699 Neighboring gene Sharpr-MPRA regulatory region 589 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14515 Neighboring gene EOGT divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20050 Neighboring gene TATA element modulatory factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14516 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14517 Neighboring gene microRNA 3136 Neighboring gene ubiquitin like modifier activating enzyme 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. EOGT Correlated With Immune Infiltration: A Candidate Prognostic Biomarker for Hepatocellular Carcinoma. Shu Y, et al. Front Immunol, 2021. PMID 35069551, Free PMC Article
    2. Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. Cohen I, et al. Eur J Hum Genet, 2014 Mar. PMID 23860037, Free PMC Article
    3. Extracellular o-linked N-acetylglucosamine is enriched in stem cells derived from human umbilical cord blood. Suila H, et al. Biores Open Access, 2014 Apr 1. PMID 24804163, Free PMC Article
    4. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. Shaheen R, et al. Am J Hum Genet, 2013 Apr 4. PMID 23522784, Free PMC Article
    5. Bioinformatics and Functional Analyses Implicate Potential Roles for EOGT and L-fringe in Pancreatic Cancers. Barua R, et al. Molecules, 2021 Feb 7. PMID 33562410, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EOGT Correlated With Immune Infiltration: A Candidate Prognostic Biomarker for Hepatocellular Carcinoma.
      Title: EOGT Correlated With Immune Infiltration: A Candidate Prognostic Biomarker for Hepatocellular Carcinoma.
    2. SHCBP1 interacting with EOGT enhances O-GlcNAcylation of NOTCH1 and promotes the development of pancreatic cancer.
      Title: SHCBP1 interacting with EOGT enhances O-GlcNAcylation of NOTCH1 and promotes the development of pancreatic cancer.
    3. Bioinformatics and Functional Analyses Implicate Potential Roles for EOGT and L-fringe in Pancreatic Cancers.
      Title: Bioinformatics and Functional Analyses Implicate Potential Roles for EOGT and L-fringe in Pancreatic Cancers.
    4. Analysis of midluteal endometrial biopsies revealed an inverse correlation between endometrial EOGT and ENHO expression and body mass index. obesity impairs the EOGT-adropin axis in decidual cells, which in turn points toward a mechanistic link between metabolic disorders and adverse pregnancy outcome.
      Title: The Glycosyltransferase EOGT Regulates Adropin Expression in Decidualizing Human Endometrium.
    5. Eogt resulted in defective retinal angiogenesis, with a mild phenotype similar to that caused by reduced Notch signaling in retina. Combined deficiency of different Notch1 mutant alleles exacerbated the abnormalities in Eogt(-/-) retina, and Notch target gene expression was decreased in Eogt(-/-)endothelial cells.
      Title: O-GlcNAc on NOTCH1 EGF repeats regulates ligand-induced Notch signaling and vascular development in mammals.
    6. Studies provide evidence that mutations in EOGT lead to autosomal recessive Adams-Oliver Syndrome. [review]
      Title: EOGT and O-GlcNAc on secreted and membrane proteins.
    7. c.1074delA mutation segregates with Adams-Oliver syndrome in the Bedouin family.
      Title: Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.
    8. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.
      Title: Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Adams-Oliver syndrome 4
    MedGen: C3809092 OMIM: 615297 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13078, FLJ33770, FLJ41219, MGC34132

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II C-terminal domain S5 O-GlcNAc transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II C-terminal domain S7 O-GlcNAc transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein O-acetylglucosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein O-acetylglucosaminyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein O-GlcNAcylation via threonine IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein O-linked glycosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum lumen IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    EGF domain-specific O-linked N-acetylglucosamine transferase
    Names
    AER61 glycosyltransferase
    EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
    EGF-O-GlcNAc transferase
    extracellular O-linked N-acetylglucosamine transferase
    NP_001265618.1
    NP_775925.1
    XP_005264800.1
    XP_011531901.1
    XP_011531902.1
    XP_011531904.1
    XP_011531905.1
    XP_016861693.1
    XP_016861694.1
    XP_016861695.1
    XP_016861696.1
    XP_016861697.1
    XP_016861698.1
    XP_047303956.1
    XP_047303957.1
    XP_047303958.1
    XP_047303959.1
    XP_047303960.1
    XP_047303961.1
    XP_047303962.1
    XP_047303963.1
    XP_054202226.1
    XP_054202227.1
    XP_054202228.1
    XP_054202229.1
    XP_054202230.1
    XP_054202231.1
    XP_054202232.1
    XP_054202233.1
    XP_054202234.1
    XP_054202235.1
    XP_054202236.1
    XP_054202237.1
    XP_054202238.1
    XP_054202239.1
    XP_054202240.1
    XP_054202241.1
    XP_054202242.1
    XP_054202243.1
    XP_054202244.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042829.1 RefSeqGene

      Range
      5211..43670
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278689.2 → NP_001265618.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform a precursor

      See identical proteins and their annotated locations for NP_001265618.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AJ868234, BX648818, DA856791
      Consensus CDS
      CCDS63684.1
      UniProtKB/Swiss-Prot
      A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0
      Related
      ENSP00000373206.3, ENST00000383701.8
      Conserved Domains (1) summary
      pfam04577
      Location:245 → 472
      DUF563; Protein of unknown function (DUF563)

    2. NM_173654.3 → NP_775925.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform b precursor

      See identical proteins and their annotated locations for NP_775925.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks three alternate in-frame exons in the middle portion of the coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AJ868234, BC060887, DA856791
      Consensus CDS
      CCDS2908.1
      UniProtKB/Swiss-Prot
      Q5NDL2
      Related
      ENSP00000295571.5, ENST00000295571.9
      Conserved Domains (1) summary
      pfam04577
      Location:222 → 388
      DUF563; Protein of unknown function (DUF563)

    RNA

    1. NR_103826.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK304102, BX648818, DA856791

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      68975225..69013684 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006205.2 → XP_016861694.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

      UniProtKB/Swiss-Prot
      A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0
      Related
      ENSP00000443780.2, ENST00000540764.5
      Conserved Domains (1) summary
      pfam04577
      Location:245 → 472
      DUF563; Protein of unknown function (DUF563)

    2. XM_047448003.1 → XP_047303959.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

    3. XM_011533602.2 → XP_011531904.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

      See identical proteins and their annotated locations for XP_011531904.1

      Conserved Domains (1) summary
      pfam04577
      Location:344 → 490
      DUF563; Protein of unknown function (DUF563)

    4. XM_017006204.2 → XP_016861693.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

      Conserved Domains (1) summary
      pfam04577
      Location:343 → 489
      DUF563; Protein of unknown function (DUF563)

    5. XM_011533600.2 → XP_011531902.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

      See identical proteins and their annotated locations for XP_011531902.1

      Conserved Domains (1) summary
      pfam04577
      Location:344 → 490
      DUF563; Protein of unknown function (DUF563)

    6. XM_005264743.3 → XP_005264800.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

      See identical proteins and their annotated locations for XP_005264800.1

      UniProtKB/Swiss-Prot
      A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0
      Conserved Domains (1) summary
      pfam04577
      Location:245 → 472
      DUF563; Protein of unknown function (DUF563)

    7. XM_011533603.2 → XP_011531905.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

      Conserved Domains (1) summary
      pfam04577
      Location:343 → 489
      DUF563; Protein of unknown function (DUF563)

    8. XM_011533599.2 → XP_011531901.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

      See identical proteins and their annotated locations for XP_011531901.1

      Conserved Domains (1) summary
      pfam04577
      Location:344 → 490
      DUF563; Protein of unknown function (DUF563)

    9. XM_017006206.2 → XP_016861695.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

      UniProtKB/Swiss-Prot
      A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0
      Conserved Domains (1) summary
      pfam04577
      Location:245 → 472
      DUF563; Protein of unknown function (DUF563)

    10. XM_047448005.1 → XP_047303961.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

      UniProtKB/Swiss-Prot
      A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0

    11. XM_047448006.1 → XP_047303962.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

      UniProtKB/Swiss-Prot
      A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0

    12. XM_047448002.1 → XP_047303958.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

    13. XM_047448000.1 → XP_047303956.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

    14. XM_047448004.1 → XP_047303960.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

    15. XM_047448001.1 → XP_047303957.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

    16. XM_017006207.2 → XP_016861696.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X4

      UniProtKB/TrEMBL
      B4E243

    17. XM_017006209.2 → XP_016861698.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X6

      UniProtKB/TrEMBL
      B4E243
      Related
      ENST00000496647.5

    18. XM_047448007.1 → XP_047303963.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X7

      UniProtKB/TrEMBL
      B3KR71, B4E243

    19. XM_017006208.2 → XP_016861697.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      69011970..69050451 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346264.1 → XP_054202239.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

      UniProtKB/Swiss-Prot
      A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0

    2. XM_054346259.1 → XP_054202234.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

    3. XM_054346253.1 → XP_054202228.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

    4. XM_054346256.1 → XP_054202231.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

    5. XM_054346251.1 → XP_054202226.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

    6. XM_054346261.1 → XP_054202236.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

      UniProtKB/Swiss-Prot
      A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0

    7. XM_054346257.1 → XP_054202232.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

    8. XM_054346252.1 → XP_054202227.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

    9. XM_054346265.1 → XP_054202240.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

      UniProtKB/Swiss-Prot
      A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0

    10. XM_054346262.1 → XP_054202237.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

      UniProtKB/Swiss-Prot
      A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0

    11. XM_054346263.1 → XP_054202238.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

      UniProtKB/Swiss-Prot
      A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0

    12. XM_054346258.1 → XP_054202233.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

    13. XM_054346254.1 → XP_054202229.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

    14. XM_054346260.1 → XP_054202235.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

    15. XM_054346255.1 → XP_054202230.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

    16. XM_054346266.1 → XP_054202241.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X4

      UniProtKB/TrEMBL
      B4E243

    17. XM_054346269.1 → XP_054202244.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X6

      UniProtKB/TrEMBL
      B4E243

    18. XM_054346268.1 → XP_054202243.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X8

      UniProtKB/TrEMBL
      B4E243

    19. XM_054346267.1 → XP_054202242.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5NDL2.1 GenPept UniProtKB/Swiss-Prot:Q5NDL2

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